Hannah Stamberger

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 558 citations · Full text

De novo variants in neurodevelopmental disorders with epilepsy

Henrike Heyne, Tarjinder Singh, Hannah Stamberger et al. · Nature Genetics · 2018 · 306 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Neurology +5

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy et al. · The American Journal of Human Genetics · 2018 · 120 citations · Full text

Scn1a-associated Genetic Epilepsies, Genetic Disorder, Genetics +6

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 111 citations · Full text